A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3332404



Internal ID19416696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18327294..18327294hg38UCSC Ensembl
chr11:18348841..18348841hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14530378
SamplesHG00268
Known GenesGTF2H1
MethodSequencing
AnalysisRead and contig alignments were done with BLASR. The Celera assembler (8.3rc2) was used to assemble RS II samples (CHM1, CHM13, HG00514, HG00733, NA19240, HG02818, NA19434, HG01352, HG02059, NA12878, and HG04217, and Canu (1.7) was used for Sequel samples (HG02106 and HG00268). Variant calling was performed with SMRT-SV (10.1101/gr.214007.116).
PlatformPacBio RS II P6C4, PacBio Sequel v2.1
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3332404
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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